Patrick Yap

4PUBLICATIONS
31CO-AUTHORS
Genome structure and regulationNeonatologyMedical devicesNeurogenetics
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Publications (4)

|Dec 17, 2025
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.

Yukina Hayashi, Kenta Kajiwara, Seiji Mizuno

|Nov 05, 2023
Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.

Patrick Yap, Lisa G Riley, Purvi M Kakadia

|Mar 27, 2023
Molecular diagnosis of 405 individuals with autism spectrum disorder.

Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai

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